Somatic Instability of CTG Expansion in Cancer Tissue?
نویسندگان
چکیده
منابع مشابه
Detection of Somatic Mutation in Exon 12 of DNA Polymerase β in Ovarian Cancer Tissue Samples
Background: DNA polymerase β (pol β) is a key enzyme of base excision repair pathway. It is a 1-kb gene consisting of 14 exons. Its catalytic part lies between exon 8 and exon 14. Exon 12 has a role in deoxyribonucleotide triphosphate selection for nucleotide transferase activity. Methods: Genomic DNA was isolated from ovarian carcinoma samples. Single strand conformation polymorphism...
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Myotonic dystrophy is characterised by the striking level of somatic heterogeneity seen between and within tissues of the same patient, which probably accounts for a significant proportion of the pleiotropy associated with this disorder. The congenital form of the disease is associated with the largest (CTG)n repeat expansions. We have investigated the timing of instability of myotonic dystroph...
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The expansion of CAG/CTG repeats is responsible for many diseases, including Huntington's disease (HD) and myotonic dystrophy 1. CAG/CTG expansions are unstable in selective somatic tissues, which accelerates disease progression. The mechanisms underlying repeat instability are complex, and it remains unclear whether chromatin structure and/or transcription contribute to somatic CAG/CTG instabi...
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A quantitative genetic assay was developed to monitor alterations in tract lengths of trinucleotide repeat sequences in Saccharomyces cerevisiae. Insertion of (CAG)50 or (CTG)50 repeats into a promoter that drives expression of the reporter gene ADE8 results in loss of expression and white colony color. Contractions within the trinucleotide sequences to repeat lengths of 8 to 38 restore functio...
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Expanded CAG-CTG trinucleotide repeat tracts are associated with a number of hereditary neurodegenerative and neuromuscular diseases such as Huntington's disease, myotonic dystrophy and spinocerebellar ataxias. These diseases are characterized by the phenomenon of genetic anticipation, which is defined by a decrease in the age of onset and an increase in severity of the disease with successive ...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2002
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.41.253